A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534673



Internal ID15505354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:60035366..60114910hg38UCSC Ensembl
Innerchr16:60069270..60148814hg19UCSC Ensembl
Innerchr16:58626771..58706315hg18UCSC Ensembl
Innerchr16:58626771..58706315hg17UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg3879545
hg1979545
hg1879545
hg1779545
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457492
Supporting Variants
SamplesHGDP00109
Known Genes
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nssv534673
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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